OMIM Find_IDs Find_Terms Annotation
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created at 2024-09-23 05:55:30 UTC
updated at 2024-09-23 18:21:54 UTC
The OMIM entries, compiled in the following way.
1. The original entries were downloaded from BioPortal, on Sep. 23, 2024.
2. Only the original OMIM entries were extracted, which excluded the STY and MTHU entries.
Namespace for Semantic Web: http://purl.bioontology.org/ontology/OMIM/
Namespace for the OMIM web pages: https://www.omim.org/entry/
116,330 entries
Label
Id
BP230 113810
BP240 113810
BPAG1 113810
DMH 113810
DST 113810
DT 113810
DYSTONIN 113810
BULLOUS PEMPHIGOID ANTIGEN 1 113810
DYSTONIA MUSCULORUM, MOUSE, HOMOLOG OF 113810
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 113810
EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY 113810